Table 1.

Demographic and neuropsychological evaluation of the five cerebrotendinous xanthomatosis patients

	Case 1	Case 2	Case 3	Case 4	Case 5
Gender	male	male	female	male	female
Age (years)	29	27	54	49	48
Age at diagnosis (year old)	24	23	37	32	31
Clinical features
Cataract	+	+	+	+	+
Mental Retard	mild to moderate	mild	moderate	moderate	moderate
Psychiatric diagnosis	Anxiety	none	none	none	Dysthymia
Epilepsy	+	-	-	-	-
Achilles tendon xanthoma	+	+	+	+	+
Ataxia	+	+	+	+	+
MRI follow up numbers (times)	3	3	6	6	6
Image features at diagnosis and follow up
Dilation of 4th ventricle at diagnosis	+	+	+	+	+
Peri-dentate WM change	+	+	+	+	+
Peri-ventricular WM	+	+	+	+	+
hyper-intensity
Cerebellar WM changes	+	+	+	+	+
WAIS-R at diagnosis	64/49/55	71/65/67	55/54/49	50/50/45	50/50/45
(VIQ/PIQ/FIQ)
WAIS-R (VIQ/PIQ/FIQ)	64/49/55	71/65/67	62/57/55	54/57/49	54/57/49
Mini-mental state examination	24	23	7	6	7
Clinical dementia rating	0.5	0.5	2	2	2
CASI (100)	75.7*	73.8 *	19*	24.2*	25.7*
Mental manipulation (10)	2	7	0	1	2
Attention (8)	8	6	5	5	5
Orientation (18)	18	16	4	4	4
Long term Memory (10)	4	4	0	0	0
Short term Memory (12)	12	9.8	1.5	2.7	3.7
Abstract thinking (12)	10	9	2	5	6
Drawing (10)	6	8	5	5	4
Verbal fluency (10)	6	6	1	1	1
Language (10)	9.7	8	0.5	0.5	0

WAIS-R = Wechsler Adult Intelligence Scale-Revised; CASI = Cognitive ability screening instrument; (+) = present; (-) = absent; WM = white matter; MRI = magnetic resonance imaging.

*score < 5 percentile in CASI, numbers in the parenthesis indicate maximal score;